Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo-athetosis.
D000015:Abnormalities, Multiple / Q000235:genetics; D001774:Blood Chemical Analysis; D001921:Brain / Q000473:pathology*; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006128:Growth; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D007668:Kidney / Q000033:anatomy & histology; D008297:Male; D008722:Methods; D008831:Microcephaly / Q000150:complications*; D009461:Neurologic Manifestations / Q000150:complications*; D009896:Optic Atrophy / Q000150:complications; D011507:Proteinuria / Q000150:complications; D011596:Psychomotor Disorders / Q000150:complications